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Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
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Abstract<p>Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.</p>
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Publication Date
Tue Jan 01 2002
Journal Name
Journal
The Effectiveness &amp; Safety of Topical Podophyllin Therapy in Condylomata Acuminata in Iraqi Infants and Young Children.
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KESMM Al, WAA Al-Nuaimy

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Publication Date
Sun Jan 01 2006
Journal Name
Iraqi Journal Of Community Medicine
The Effectiveness &amp; Safety of Topical Podophyllin Therapy in Condylomata Acuminata in Iraqi Infants and Young Children
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KE Sharquie, MM Al-Waiz, AA Al-Nuaimy, IRAQI JOURNAL OF COMMUNITY MEDICINE, 2006

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Publication Date
Tue May 11 2021
Journal Name
Research J. Pharm. And Tech
Association of Serum Renal Function Levels with Heart Failure Disease in Iraqi Patients
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Renal function tests are commonly used in clinical practice to look for renal disease, the most common includes the serum urea, uric acid and creatinine. Heart failure patients have a higher incidence of renal function test abnormalities than individuals who do not have heart failure disease. Fifty subjects of adults (male) were divided in to two groups, 25 subjects (healthy) as control (group1) and 25 subjects with heart failure (group 2). Our results indicate that serum uric acid, urea, and creatinine values were significantly elevated (P≤0.05) in patients group (2) compared with healthy group (1). The results also showed, the effect of age categories on uric acid blood urea nitrogen and creatinine values (P≤0.05) and there were no si

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Publication Date
Thu Jul 01 2010
Journal Name
Clinical And Experimental Rheumatology
RE-EVALUATION OF PATHERGY TEST IN IRAQI PATIENTS WITH BEHCET&#39;S DISEASE
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KE Sharquie, R Hayani, J Al-Rawi, A Noaimi, SH Radhy, CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2010

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Publication Date
Sat Nov 15 2025
Journal Name
Baghdad Science Journal
A Study of Dipeptidyl Peptidase-4 in Iraqi Patients with Coronary Artery Disease
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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
Maximum Bite Force among Iraqi Primary School Children in Mixed dentition
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Publication Date
Sun Oct 01 2023
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Atherogenic Indices in Type 2 Diabetic Iraqi Patients and Its Association with Cardiovascular Disease Risk
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خلفية البحث: مرض السكري هو عامل خطر لأمراض القلب والأوعية الدموية وتصلب الشرايين وسبب مهم للوفاة. يرتبط خلل الدهون في الدم بشكل شائع بمرض السكري من النوع الثاني ويعتبر مؤشر تصلب الشرايين في البلازما علامة قوية للتنبؤ بخطر الإصابة بتصلب الشرايين وأمراض القلب التاجية. الهدف من البحث: دراسة ارتباط المؤشرات الدهنية لتصلب الشرايين لدى المرضى العراقيين المصابين بالسكري من النوع الثاني ولديهم أمراض قلبية وعائ

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Publication Date
Wed Mar 11 2026
Journal Name
Basic Education College Magazine For Educational And Humanities Sciences
Developing the design structure of Iraqi children magazine covers
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Publication Date
Sat Aug 03 2019
Journal Name
Current Research In Microbiology And Biotechnology
Seropositivity of Helicobacter pylori among Iraqi patients with Atherosclerosis and coronary artery disease
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The present study evaluated the anti- Helicobacter pylori IgG, IgA and the role of virulence factor of H. pylori Vacuolating associated cytotoxin gene (Vac A) as a risk factors for CAD. The levels of serum IgG and IgA was done by indirect immunofluorescent (IIF) whereas Vac A measured by enzyme linked immunosorbent assay (ELISA). Ibn Al-Bitar specialist center for cardiac surgery laboratory and Ministry of Health/ Baghdad/ Iraq, between May and October 2018. Seventy Iraqi patients with CAD were enrolled in this study, their ages ranged between 40-84 years ; and 20 individuals as a control group which was divided into 2 subgroups: 10 apparently healthy volunteers (negative control) and the other subgroup contained 10 with normal coronary art

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
The Relation between Some Genetic Traits (Ptc Tasting, Tongue Rolling, Earlobe Attachment and Dental Occlusion in Iraqi Adults
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